Literature DB >> 21416586

Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.

Paolo Prontera1, Gabriela Stangoni, Carmela Ardisia, Daniela Rogaia, Amedea Mencarelli, Emilio Donti.   

Abstract

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Year:  2011        PMID： 21416586     DOI： 10.1002/ajmg.a.33817

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

1.  Genotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patients.

Authors:  Zhen Zhang; Qian Jiang; Qi Li; Wei Cheng; Guoliang Qiao; Ping Xiao; Liang Gan; Lin Su; Chunyue Miao; Long Li
Journal:  Int J Clin Exp Pathol       Date:  2015-05-01

Review 2.  Constitutional and acquired autosomal aneuploidy.

Authors:  Colleen Jackson-Cook
Journal:  Clin Lab Med       Date:  2011-12       Impact factor: 1.935

Review 3.  Sudden unexpected early neonatal death due to undiagnosed Hirschsprung disease enterocolitis: a report of two cases and literature review.

Authors:  Luiz Cesar Peres; Marta Cecilia Cohen
Journal:  Forensic Sci Med Pathol       Date:  2013-07-11       Impact factor: 2.007
  3 in total

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